Neurology Residents Versus a Mobile Medical Application in deducing differential diagnoses in Movement Disorders: A multi-center, cross-sectional, observational study
Objective: To test the hypothesis that the differentials generated by the Mobile Medical Application are more clinically relevant and complete to the ones derived by…Dentatorubral-Pallidoluysian Atrophy outside of Asia: A case report of the first Austrian family harbouring this rare mutation
Objective: To report clinical features of the first Austrian family with Dentatorubral-Pallidoluysian Atrophy (DRPLA). Background: DRPLA is a progressive disorder with an autosomal-dominant mode of…A Korean case of Fragile X-associated mild ataxia without tremor
Objective: To report a case of Fragile X-associated tremor/ataxia syndrome (FXTAS) only with mild ataxia. Background: FXTAS is a neurodegenerative disorder caused by the CGG trinucleotide…Opsoclonus-Myoclonus-Ataxia Syndrome – Ljubljana University Children’s Hospital clinical series
Objective: Analysis of number, clinical characteristics and outcome of patients admitted to our department due to OMS in the past 25 years. Background: Opsoclonus-myoclonus-ataxia syndrome…Cerebellar ataxia and cutaneous lesions: a clinical case
Objective: Highlight the complex differential diagnosis of ataxia in a patient with cutaneous lesions. Background: Cerebellar ataxias may accompany neurocutaneous syndromes. XP is a rare…Sporadic progressive ataxia and palatal tremor: A case report
Objective: To report the clinical presentation and neuroimaging findings of sporadic PAPT. Background: Progressive ataxia and palatal tremor (PAPT) manifests as mid to late-adult onset slowly…Kinematic Gait Analysis in patients with ataxic disorders
Objective: To assess the kinematic gait parameters in patients with ataxia using gait analysis product “GAITRite”. Background: Ataxia is a disorder of balance and coordination…Epidemiological study of multiple system atrophy: data from HoRC-MSA Project 2014-2019
Objective: To investigate epidemiological aspects of multiple system atrophy (MSA) in Hokkaido, Japan from the data of the Hokkaido Rare-disease Consortium for MSA (HoRC-MSA). Background:…Is early onset ataxia phenotypically discernible from developmental disorders with impaired coordination?
Objective: To investigate: 1. the diagnostic accuracy of phenotypic Early Onset Ataxia (EOA) recognition among other pediatric disorders with impaired coordination (developmental coordination disorder (DCD)…A clinical and pathological study of small fibers in Friedreich´s Ataxia
Objective: To investigate the small fibers pathology in Friedreich´s Ataxia (FRDA). Background: FRDA is an inherited movement disorder caused by homozygous GAA expansions in the…
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